Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Bernd Rösler"'
Autor:
Thomas Manke, Andreas Zimmer, Judith Fischer, Nina Schlipf, Anca Dragomir, S Fismen, Marie Virtanen, N Teigen, Bernd Rösler, Maxim Barenboim, Anders Vahlquist
Publikováno v:
British Journal of Dermatology. 174:444-448
Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome
Autor:
Meike Jost, Lars Frings, Judith Fischer, Stephan Klebe, Cornelius Weiller, Philipp T. Meyer, Marc-Alexander Rauschendorf, Friedrich Stock, Tobias Piroth, Volker A. Coenen, Andreas Zimmer, Peter C. Reinacher, Michel Rijntjes, Bernd Rösler
Publikováno v:
Movement Disorders. 32:478-480
Autor:
Silvina Sartori, Andreas Zimmer, Rudolf Happle, Astrid Laut, Judith Fischer, Philipp Demmer, Marc-Alexander Rauschendorf, Bernd Rösler
Publikováno v:
Pigment cellmelanoma research. 32(1)
Publikováno v:
Acta dermato-venereologica. 97(1)
Autor:
Cristina Has, Ingrid Hausser, Andreas Zimmer, Thilo Jakob, Judith Fischer, Kristin Technau, Agnes Schwieger-Briel, Nadja Chmel, Nina Schlipf, Bernd Rösler
Publikováno v:
Acta dermato-venereologica. 96(7)
Autor:
Moritz Rostásy, Hans-Henning Arnold, Mildred Kramer, Elke Troppmann, Olaf Hiort, Bernd Rösler, Michael Wegner, Friederike Denzer, Orietta Radi, Jillian R. Mann, James German, Simon Kaltenbach, Elisabeth Sock, Colm Costigan, John H Seguin, Gerd Scherer, William Zipf, Gwang-Jin Kim, Trevor Cole, Sebastian A Widholz, Peter Wieacker, Hoepffner W, Astrid Buchberger, Hardi Schmiady, Anika Salfelder, Giovanna Camerino, Ina Georg, Anne-Christin Teichmann, Walter Just
Background SOX9 mutations cause the skeletal malformation syndrome campomelic dysplasia in combination with XY sex reversal. Studies in mice indicate that SOX9 acts as a testis-inducing transcription factor downstream of SRY , triggering Sertoli cell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bf1bb5ebaf3476f6bdcb569220968ff
https://opus4.kobv.de/opus4-fau/files/7890/Kim_copy_number.pdf
https://opus4.kobv.de/opus4-fau/files/7890/Kim_copy_number.pdf
Publikováno v:
American Journal of Medical Genetics Part A. :222-226
The SALL4 gene encodes a putative zinc finger transcription factor and is located on chromosome 20q13.13-13.2. Mutations in SALL4 have been identified in patients with Okihiro syndrome, which is characterized by radial ray anomalies associated with a
Autor:
Ursula G. Froster, Tara Montgomery, Jürgen Kohlhase, Sigrun Fuchs, Dieter Kotzot, Bernd Rösler, David Chitayat, Serdar Ceylaner
Publikováno v:
Human Mutation. 26:176-183
Okihiro/Duane-radial ray syndrome (DRRS) is an autosomal dominant condition characterized by radial ray defects and Duane anomaly (a form of strabismus). Other abnormalities reported in this condition are anal, renal, cardiac, ear, and foot malformat
Autor:
Kalle O. J. Simola, Julie McGaughran, R. Brian Lowry, Helena Ilyina, Elke M. Botzenhart, Jürgen Kohlhase, Ronit Chafai, Ron C Michaelis, Ivan F M Lo, Rainer König, Margo L. Whiteford, Leah W. Burke, Genevieve Pierquin, Andrew Green, Mordechai Shohat, Bernd Rösler
Publikováno v:
Human mutation. 26(3)
Townes-Brocks syndrome is an autosomal dominantly inherited disorder, which comprises multiple birth defects including renal, ear, anal, and limb malformations. TBS has been shown to result from mutations in SALL1, a human gene related to the develop